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Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations.

Genes - 19 Aug 2021

Huang Chu-Hsuan, Yang Chung-May, Yang Chang-Hao, Hou Yu-Chih, Chen Ta-Ching

Abstract excerpt

Leber's congenital amaurosis (LCA), one of the most severe inherited retinal dystrophies, is typically associated with extremely early onset of visual loss, nystagmus, and amaurotic pupils, and is responsible for 20% of childhood blindness. With advances in molecular diagnostic technology, the knowledge about the genetic background of LCA has expanded widely, while disease-causing variants have been identified in...

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Identifiers

PMID: 34440435
DOI: 10.3390/genes12081261
PMCID: PMC8392113

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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